The NF-OSI team from Sage Bionetworks presented three different open-science focused projects at the 2022 NF Conference in Philadelphia, PA between June 18-21. Didn’t attend the conference? Learn more about these presentations by checking out the summaries below!
Schwannomatosis Open Research Collaborative
Sasha Scott presented “Devising a community research collaborative to explore schwannomatosis with integrative methods”. Schwannomatosis is a rare disorder that predisposes individuals to the development of nerve sheath tumors, and the genomic landscape and genetic modifiers of this disorder are poorly understood. We are developing a collaborative project to motivate the research community to use public genomic data to uncover new scientific insights into schwannomatosis. Researchers and citizen-scientists are invited to propose or conduct computational analyses that fulfill the overall research question of uncovering noncoding variants, coding variants in under-studied genes, and other genomic features that contribute to schwannomatosis. As we develop this project we welcome feedback, contributions, and interested participants. Additional information and instructions to join this project can be found at www.synapse.org/swnts.
NF-OSI Data Reprocessing and cBioportal
Jineta Banerjee presented “Accelerating exploration of the genomic landscape of neurofibromatosis using harmonized genomic data“. Rare disease research communities are generating valuable genomic data from human tumors, animal models, and cell lines that represent different aspects of NF1 biology including plexiform neurofibromas, cutaneous neurofibromas and other NF1-linked tumors. However, individual datasets with small sample sizes present considerable hurdles in analysis and interpretation of these high-dimensional genomic data. This project aims to reprocess genomic and transcriptomic data using well-established, standardized pipelines to provide consistently-processed and formatted genomic data to cBioPortal and enable NF researchers to explore these data easily. This NF Open Science Initiative aims to make data from different sources directly comparable, and consequently, easily and rapidly reusable.
NF Research Tools Database
Robert Allaway presented “Centralizing neurofibromatosis experimental tool knowledge with the NF Research Tools Database”. Reusable research tools, such as model organisms, cell lines, and antibodies, are essential in designing and executing successful biological experiments. However, reliable research is hard when reliable tools are not available. In NF, understanding which tools exist, what they can be used for, and whether they are reliable is difficult. In this presentation, we described the NF Research Tools Database (tools.nf.synapse.org), which aims to solve these challenges.
